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70 积分 2025-02-26 加入
Third-generation sequencing: A novel tool detects complex variants in the α-thalassemia gene
12小时前
待确认
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)
15小时前
已完结
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3‐Related Spinocerebellar Ataxia
16天前
已完结
Combined genetic screening and traditional biochemical screening to optimize newborn screening systems
22天前
已完结
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease
24天前
已完结
Diagnosis and phenotypic classification of Wilson disease1
24天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China
2个月前
已完结
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes
2个月前
已完结
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